Results 131 to 140 of about 21,834 (238)

Coulomb gap in one-dimensional disordered electron systems

, 2002
The density of states of one-dimensional disordered electron systems with long range Coulomb interaction is studied in the weak pinning limit. The density of states is found to follow a power law with an exponent determined by localization length, and ...
A. Furusaki, A.L. Efros, B. Halperin, C. Kane, G. Grüner, G.S. Jeon, H. Fukukyama, H. Maurey, H.J. Schulz, Hyun C. Lee, J. Solyom, J. Voit, P.A. Lee, P.A. Lee, S.-R. EricYang, T. Vojta, T.W. Ebbesen, X.G. Wen   +17 more
core   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literature

Orphanet Journal of Rare Diseases
Background 46, XY disorders of sex development (DSD) and aceruloplasminaemia (ACP) are very rare genetic disorders, and no cases of the coexistence of both disorders have been reported.
Yanju Li, Mei Zhao, Yang Liu, Lan Wang, Yi Huang, Feiqing Wang   +5 more
doaj   +1 more source

TRP canonical 4 and/or 5 channel inhibition reduces aversion‐ and increases reward‐responding in chronically stressed mice

British Journal of Pharmacology, Volume 183, Issue 9, Page 2139-2165, May 2026.
Abstract Background and Purpose Pharmacological inhibition of TRPC4 and/or TRPC5 channels reduces Pavlovian aversion memory in stressed mice and reduces amygdala reactivity to aversion in humans with depression. The aims of this mouse study were to improve understanding of these anxiolytic processes, determine whether there are corrective effects on ...
Giulia Poggi, Deniz Queisser, Alena Senn, Hannes Sigrist, Diana Kúkeľová, Lorraine Madur, Nagiua Cuomo‐Haymour, Mélisse Robert, Sophie Schmid, Adrián Portalés, Sophie Simard, Naguib Mechawar, Bastian Hengerer, Stefan Just, Christopher R. Pryce   +14 more
wiley   +1 more source

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

Brazilian Journal of Medical and Biological Research, 2011
Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding.
J.L. Cunha, F.C. Soardi, R.D. Bernardi, L.E.C. Oliveira, C.E. Benedetti, G. Guerra-Junior, A.T. Maciel-Guerra, M.P. de Mello   +7 more
doaj   +2 more sources

Emerging Role of Ferroptosis in Diabetes and Associated Complications: When Metabolic Dysregulation Meets Cell Death

Cell Proliferation, Volume 59, Issue 5, May 2026.
This study identifies ferroptosis as a key driver of diabetes and its complications via iron metabolism and lipid peroxidation, elucidates organelle interactions underlying cell vulnerability, and provides insights for targeted therapies against metabolic disorders.
Zheng Wang, Ying Zhang, Yue Xu, Mengyuan Yang, Yuan Wei, Yuan Li, Tongyue Yang, Xu Wang, Chaona Yang, Qi Feng, Guolan Xing   +10 more
wiley   +1 more source

Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development

Biology of Sex Differences
Background 46,XX testicular disorder/difference of sex development (46,XX DSD) is a rare congenital condition, characterized by a combination of the typical female sex chromosome constitution, 46,XX, and a variable male phenotype.
Agnethe Berglund, Emma B. Johannsen, Anne Skakkebæk, Simon Chang, Julia Rohayem, Sandra Laurentino, Arne Hørlyck, Simon O. Drue, Ebbe Norskov Bak, Jens Fedder, Frank Tüttelmann, Jörg Gromoll, Jesper Just, Claus H. Gravholt   +13 more
doaj   +1 more source

Oral‐Rinse‐Sourced Microbiota in Oral Health and Diseases in a Representative US Adult Population: Implications for Diagnostics

Journal of Clinical Periodontology, Volume 53, Issue 5, Page 760-773, May 2026.
ABSTRACT Aims To investigate the associations between oral‐rinse microbiota and distinct oral conditions, and further evaluate its potential ability to distinguish periodontitis severity. Methods Oral‐rinse‐sourced microbiota with 16S ribosomal RNA sequencing from 3770 adults in US National Health and Nutrition Examination Survey 2009–2012 were ...
Yu Xie, Alejandro Artacho, Xiaoyu Yu, Mengning Bi, Hairui Li, Yuan Li, Andrea Roccuzzo, Alex Mira, Bob T. Rosier, Maurizio S. Tonetti   +9 more
wiley   +1 more source

Testosterone Exposure During Fetal Masculinization Programming Window Determines the Kidney Size in Adult Mice

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Kidney size is sex‐dimorphic and regulated by androgens in adult humans and mice. Male mice lacking the main testosterone‐producing enzyme HSD17B3 had reduced testosterone during a short fetal time window, leading to reduced size of kidneys in adults, which were not responsive to high adult testosterone.
Arttu Junnila, Kalle T. Rytkönen, Guillermo Martinez‐Nieto, Mats Perk, Otto Mäkelä, Hao Li, Jenni Airaksinen, Ida Hyötyläinen, Oliver Mehtovuori, Asta Laiho, Claes Ohlsson, Laura L. Elo, Satu Kuure, Matti Poutanen, Petra Sipilä   +14 more
wiley   +1 more source